Mutagenetix > Incidental Mutation

Incidental Mutation 'R9539:Pacc1'

719791

Institutional Source

Beutler Lab

Gene Symbol

Pacc1

Ensembl Gene

ENSMUSG00000026627

Gene Name

proton activated chloride channel 1

Synonyms

Tmem206, 2310028N02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R9539 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

191058109-191083111 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 191077174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 166 (Q166*)

Ref Sequence

ENSEMBL: ENSMUSP00000027940 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027940]

AlphaFold

Q9D771

Predicted Effect

probably null
Transcript: ENSMUST00000027940
AA Change: Q166*

SMART Domains

Protein: ENSMUSP00000027940
Gene: ENSMUSG00000026627
AA Change: Q166*

Domain	Start	End	E-Value	Type
coiled coil region	2	36	N/A	INTRINSIC
Pfam:TMEM206	55	349	7.2e-173	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asah1	G	A	8: 41,827,584 (GRCm39)	A13V	probably benign	Het
Bdh1	A	G	16: 31,273,914 (GRCm39)	T160A	probably benign	Het
Ccdc115	C	T	1: 34,477,930 (GRCm39)		probably null	Het
Ccdc162	T	A	10: 41,463,407 (GRCm39)	E1445V	possibly damaging	Het
Ccdc88c	T	C	12: 100,901,993 (GRCm39)	E1215G	possibly damaging	Het
Cep290	A	T	10: 100,404,713 (GRCm39)	E2358D	probably damaging	Het
Cog6	A	G	3: 52,914,722 (GRCm39)	S245P	probably benign	Het
Copb2	A	T	9: 98,467,983 (GRCm39)		probably null	Het
Crtc1	T	A	8: 70,892,115 (GRCm39)	M32L	probably benign	Het
Dagla	A	C	19: 10,228,429 (GRCm39)		probably null	Het
Dph5	C	A	3: 115,722,305 (GRCm39)	P261Q	probably damaging	Het
Gpr137c	T	C	14: 45,516,187 (GRCm39)	V307A	probably damaging	Het
Herpud2	A	G	9: 25,041,936 (GRCm39)	Y79H	probably damaging	Het
Ighg2b	C	T	12: 113,270,498 (GRCm39)	V211I		Het
Meioc	C	T	11: 102,565,506 (GRCm39)	T318M	probably damaging	Het
Mterf4	T	C	1: 93,229,188 (GRCm39)	Y275C	unknown	Het
Mtfr1	T	C	3: 19,271,422 (GRCm39)	V198A	probably benign	Het
Ogfrl1	T	A	1: 23,415,322 (GRCm39)	I138F	probably damaging	Het
Pf4	T	A	5: 90,920,891 (GRCm39)	V73D	possibly damaging	Het
Phldb1	T	C	9: 44,627,482 (GRCm39)	E321G	probably damaging	Het
Plch1	T	C	3: 63,691,427 (GRCm39)	S59G	probably null	Het
Pmfbp1	A	G	8: 110,240,537 (GRCm39)	I206M	probably damaging	Het
Ppp1r15a	A	G	7: 45,174,658 (GRCm39)	V50A	probably damaging	Het
Ptprs	T	C	17: 56,725,715 (GRCm39)	H1496R	probably benign	Het
Sardh	T	A	2: 27,134,298 (GRCm39)	I73F	probably damaging	Het
Serpind1	G	A	16: 17,157,638 (GRCm39)	W278*	probably null	Het
Slit3	C	T	11: 35,589,155 (GRCm39)	Q1237*	probably null	Het
Smg1	T	C	7: 117,744,976 (GRCm39)	I3059V	probably benign	Het
Spart	T	A	3: 55,034,924 (GRCm39)	W437R	probably damaging	Het
Spata6	C	G	4: 111,685,526 (GRCm39)	A477G	possibly damaging	Het
Suox	A	G	10: 128,507,383 (GRCm39)	F215S	probably damaging	Het
Tcaf1	T	C	6: 42,655,683 (GRCm39)	N431S	probably benign	Het
Tgfbr3l	G	A	8: 4,299,679 (GRCm39)	R154H	probably damaging	Het
Tll1	T	C	8: 64,494,457 (GRCm39)	K766R	probably damaging	Het
Tmem63b	T	A	17: 45,984,105 (GRCm39)	K255*	probably null	Het
Tmem67	A	T	4: 12,045,814 (GRCm39)	L881H	probably damaging	Het
Tmem67	G	T	4: 12,045,815 (GRCm39)	L881I	probably damaging	Het
Tnrc6b	A	G	15: 80,760,544 (GRCm39)	S84G	probably damaging	Het
Traf7	C	T	17: 24,729,333 (GRCm39)	V465M	probably damaging	Het
Ttn	C	T	2: 76,618,568 (GRCm39)	V16239I	probably damaging	Het
Unc80	T	C	1: 66,609,163 (GRCm39)		probably null	Het
Zc3h11a	T	C	1: 133,554,927 (GRCm39)	E351G	probably benign	Het
Zfp942	T	A	17: 22,148,014 (GRCm39)	H205L	probably damaging	Het

Other mutations in Pacc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00579:Pacc1	APN	1	191,060,405 (GRCm39)	missense	unknown
IGL02318:Pacc1	APN	1	191,080,605 (GRCm39)	missense	possibly damaging	0.90
IGL03180:Pacc1	APN	1	191,071,089 (GRCm39)	missense	probably damaging	1.00
R1301:Pacc1	UTSW	1	191,080,632 (GRCm39)	missense	probably damaging	1.00
R1445:Pacc1	UTSW	1	191,080,559 (GRCm39)	unclassified	probably benign
R1463:Pacc1	UTSW	1	191,060,486 (GRCm39)	splice site	probably benign
R1610:Pacc1	UTSW	1	191,077,262 (GRCm39)	missense	probably benign	0.04
R2149:Pacc1	UTSW	1	191,077,306 (GRCm39)	missense	probably benign	0.04
R4418:Pacc1	UTSW	1	191,080,629 (GRCm39)	missense	probably damaging	1.00
R4825:Pacc1	UTSW	1	191,073,040 (GRCm39)	missense	probably damaging	0.97
R5274:Pacc1	UTSW	1	191,080,665 (GRCm39)	missense	probably damaging	0.99
R5842:Pacc1	UTSW	1	191,078,986 (GRCm39)	missense	probably damaging	1.00
R5956:Pacc1	UTSW	1	191,080,568 (GRCm39)	missense	probably damaging	1.00
R6031:Pacc1	UTSW	1	191,073,037 (GRCm39)	missense	probably benign	0.09
R6031:Pacc1	UTSW	1	191,073,037 (GRCm39)	missense	probably benign	0.09
R7500:Pacc1	UTSW	1	191,078,910 (GRCm39)	splice site	probably null
R7670:Pacc1	UTSW	1	191,073,065 (GRCm39)	missense	probably benign	0.19
R9331:Pacc1	UTSW	1	191,077,318 (GRCm39)	critical splice donor site	probably null
R9516:Pacc1	UTSW	1	191,082,004 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCGTGAAGAGAGCATGTGTC -3'
(R):5'- ACAGTGAGACCCCTGAACTC -3'

Sequencing Primer
(F):5'- ATGTGTCACATGCAGCTGG -3'
(R):5'- TGAACTCTGAACAGCCACCTTTG -3'

Posted On

2022-07-18